Variant report

Variant	esv15630
Chromosome Location	chr6:160649987-160654846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 237 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13216396	chr6:160650000-160650001	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs13219634	chr6:160650003-160650004	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77008204	chr6:160650006-160650007	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186065022	chr6:160650024-160650025	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80016742	chr6:160650028-160650029	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77472942	chr6:160650030-160650031	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386707797	chr6:160650031-160650032	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76554700	chr6:160650050-160650051	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190969143	chr6:160650054-160650055	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76388548	chr6:160650061-160650062	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78909785	chr6:160650063-160650064	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76205243	chr6:160650083-160650084	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76983189	chr6:160650091-160650092	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202120071	chr6:160650092-160650093	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74966519	chr6:160650093-160650094	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114241570	chr6:160650099-160650100	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182081838	chr6:160650155-160650156	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2774232	chr6:160650176-160650177	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186080005	chr6:160650187-160650188	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76239824	chr6:160650194-160650195	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577730525	chr6:160650208-160650209	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191334409	chr6:160650255-160650256	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563628732	chr6:160650281-160650282	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138968449	chr6:160650291-160650292	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549201036	chr6:160650297-160650298	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77219161	chr6:160650333-160650334	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559119504	chr6:160650355-160650356	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533859882	chr6:160650455-160650456	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528229397	chr6:160650466-160650467	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112079851	chr6:160650483-160650484	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571378362	chr6:160650525-160650526	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142210951	chr6:160650528-160650529	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34360089	chr6:160650541-160650542	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567987202	chr6:160650542-160650543	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536540057	chr6:160650543-160650544	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113968396	chr6:160650572-160650573	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573488427	chr6:160650579-160650580	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs202201386	chr6:160650636-160650637	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556028077	chr6:160650637-160650638	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183214215	chr6:160650735-160650736	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539203137	chr6:160650834-160650835	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557912079	chr6:160650913-160650914	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550723807	chr6:160650950-160650951	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577472004	chr6:160650958-160650959	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188617053	chr6:160650995-160650996	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112697037	chr6:160651027-160651028	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573927332	chr6:160651062-160651063	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139773203	chr6:160651066-160651067	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572462923	chr6:160651071-160651072	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528291761	chr6:160651096-160651097	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160640400-160651200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:160644000-160668600	Weak transcription	Aorta	Aorta
3	chr6:160647400-160652400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:160648800-160650000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:160648800-160650400	Weak transcription	Osteobl	bone
6	chr6:160649200-160652000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:160650000-160653000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:160650400-160650600	Enhancers	Osteobl	bone
9	chr6:160651200-160651400	Enhancers	Stomach Smooth Muscle	stomach
10	chr6:160651200-160652000	Enhancers	Colon Smooth Muscle	Colon
11	chr6:160651400-160651800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:160651800-160652200	Enhancers	Stomach Smooth Muscle	stomach
13	chr6:160652000-160652200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
14	chr6:160652200-160655200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:160652600-160653000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:160653000-160654800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:160654800-160655400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:160654800-160658800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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